Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6833007

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:40,555

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 267 SVs from 47 studies. See in: genome view

Submitted genomic134,519,133-134,559,687

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6833007	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	134,519,133	134,559,687
nsv6833007	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	134,203,885	134,244,439

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18539756	deletion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18539756	Submitted genomic		NC_000007.14:g.134 519133_134559687de l	GRCh38 (hg38)		NC_000007.14	Chr7	134,519,133	134,559,687
nssv18539756	Remapped	Perfect	NC_000007.13:g.134 203885_134244439de l	GRCh37.p13	First Pass	NC_000007.13	Chr7	134,203,885	134,244,439

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18539756	1.4e-05	4	276216

You are here: NCBI